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Article

Premature chromatid separation is not a useful diagnostic marker for Cornelia de Lange syndrome.

Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology - 1 Jan 2009

Castronovo Paola, Gervasini Cristina, Cereda Anna, Masciadri Maura, Milani Donatella, Russo Silvia, Selicorni Angelo, Larizza Lidia

Abstract excerpt

Cornelia de Lange syndrome (CdLS) is a rare, multiple congenital anomaly/mental retardation syndrome characterized by clinical variability and caused by mutations in the NIPBL (50-60%), SMC1L1 and SMC3 genes (5%), which encode for proteins involved in sister chromatid cohesion. Almost all of the...

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Source

Identifiers

PMID: 19690971
DOI: 10.1007/s10577-009-9066-6

Genes

NIPBL
SMC3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19690971-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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Premature chromatid separation is not a useful diagnostic marker for Cornelia de Lange syndrome.PMID 19690971Read ↗

Precocious sister chromatid separation (PSCS) in Cornelia de Lange syndrome.Semantic proximity Read ↗

Cornelia de Lange syndrome: from molecular diagnosis to therapeutic approach.Semantic proximity Read ↗

Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation.Semantic proximity Read ↗

NIPBL rearrangements in Cornelia de Lange syndrome: evidence for replicative mechanism and genotype-phenotype correlation.Semantic proximity Read ↗

On the molecular etiology of Cornelia de Lange syndrome.Semantic proximity Read ↗

X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations.Semantic proximity Read ↗

Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA.Semantic proximity Read ↗

Regional chromatin decompaction in Cornelia de Lange syndrome associated with NIPBL disruption can be uncoupled from cohesin and CTCF.Semantic proximity Read ↗

Cornelia de Lange Syndrome-associated mutations in Smc1 cause both sister chromatid cohesion and cohesion-independent defectsSemantic proximity Read ↗

Increased DNA damage sensitivity of Cornelia de Lange syndrome cells: evidence for impaired recombinational repairSemantic proximity Read ↗

A cohesin-independent role for NIPBL at promoters provides insights in CdLS.Semantic proximity Read ↗

Reduction of Nipbl impairs cohesin loading locally and affects transcription but not cohesion-dependent functions in a mouse model of Cornelia de Lange Syndrome.Semantic proximity Read ↗

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